NM_001278293.3:c.480-1700_535+2392del

HGVS Expressions

  • NM_001278293.3:c.480-1700_535+2392del
  • NC_000003.12:g.97790071_97794218del
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600151.3.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F004-A" in the publication
600151.3.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.3.1 "BBS-F004-B" in t...
600151.3.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.3.1 "BBS-F004-C" in t...
600151.3.4Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.3.1 "BBS-F004-D" in t...
600151.3.5Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.3.1 "BBS-F004-E" in t...
600151.4.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F018-A" in the publication
600151.4.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.4.1 "BBS-F018-B" in t...
600151.4.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.4.1 "BBS-F018-C" in t...
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